Jump to content
This site uses cookies. Continued use is acceptance of our Terms of Use and Privacy Policy. More Info... ×
  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.




  • Celiac.com Sponsor (A1):



    Celiac.com Sponsor (A1-M):


  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

What Genetic Testing Should I Request?


basilicious

Recommended Posts

basilicious Explorer

Hi all,

After getting a negative biopsy but mixed blood test results, I want to move forward with the genetic testing. (I'm hoping to find that i don't have the genes and can comfortably proceed with a NCGI label.)

However, I've seen some discussion about different genes being considered by different countries...I'm in the US and am seeing my doctor tomorrow. Does anyone have any advice about the specific test to request, including any specific genes and/or testing processes and/or companies/labs?

Also, I would like to be tested for nutrient deficiencies; which nutrients should be tested? My magnesium and B12 were normal several weeks ago, but I want a more comprehensive check.

Thank you so much!


Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):



Celiac.com Sponsor (A8-M):



basilicious Explorer

Hi all,

After getting a negative biopsy but mixed blood test results, I want to move forward with the genetic testing. (I'm hoping to find that i don't have the genes and can comfortably proceed with a NCGI label.)

However, I've seen some discussion about different genes being considered by different countries...I'm in the US and am seeing my doctor tomorrow. Does anyone have any advice about the specific test to request, including any specific genes and/or testing processes and/or companies/labs?

Also, I would like to be tested for nutrient deficiencies; which nutrients should be tested? My magnesium and B12 were normal several weeks ago, but I want a more comprehensive check.

Thank you so much!

Well, I was really in a pinch when I posted this but was able to do some additional research that I wanted to share. In fact, it came from celiac.com, so it was my oversight!

The information was under Ten Facts about Celiac Disease Genetic Testing (link is here: https://www.celiac.com/articles/21567/1/Ten-Facts-About-Celiac-Disease-Genetic-Testing/Page1.html)

"The absence of any portion of the high-risk genetic patterns DQ2 and DQ8 nearly excludes the possibility of celiac disease with an approximate accuracy of 99.9%. However, there is a big caveat about relying on "negative celiac genetic testing". To definitively declare you have negative celiac genetic tests requires that the laboratory test for and report the presence or absence of the entire HLA DQ genetic pattern, including both alpha and beta subunits. The DQ genetic patterns DQ2 and DQ8 have two subunits but some laboratories only test for the beta subunit. This DQ typing is complicated and difficult to understand even by physicians and scientists. I have written an updated detailed review that appears in the Spring 2008 issue of Scott-Free newsletter published by celiac.com."

So what I took from that is that I should request the genetic testing, which I did today during my appointment, and to help ensure a credible lab result, it's critical to ask that the lab test for both the alpha and beta subunits...to confirm the presence or absence of the entire HLA DQ genetic pattern. If the lab can't do that, then ask your doctor to find a lab that can. If there are other genes that others on here are aware of, please fill me in. I will continue my research and will append this posting if I find something of interest to others.

Also, for those who have been assisting me with my diagnosis process (@ravenwoodglass, @skylark, @rosetapper and several others), I wanted to update you that today I had blood drawn for: total IgA serum, anti-endomysial (EMA) IgA and Vitamin D. I hope to determine whether I have an IgA deficiency. Also, I don't expect my EMA IgA test to be meaningful since I am now gluten-free, but since I only had anti-gliadin IgA tested before, it's more a point of curiosity. Plus, between eating some gluten pre-biopsy, and eating out way too much to successfully avoid all gluten, it is a half-hearted attempt to double-check my blood test.

My doctor was surprisingly receptive to doing the genetic testing and is going to code it so that my insurance understands it is important to evaluate (and will therefore cover it). She's also going to test me for SIBO (at my request). She mentioned that it is key to have a credible clinic/hospital perform the SIBO breath test because the results are subject to rampant diagnosis errors...interesting tidbit.

Archived

This topic is now archived and is closed to further replies.


  • Celiac.com Sponsor (A19):



  • Member Statistics

    • Total Members
      131,310
    • Most Online (within 30 mins)
      7,748

    Scatterbrain
    Newest Member
    Scatterbrain
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      121.4k
    • Total Posts
      1m

  • Celiac.com Sponsor (A22):





  • Celiac.com Sponsor (A21):



  • Upcoming Events

  • Posts

    • barb simkin
      Anyone bothered  by chocolate and alcohol.  Found I cant drink  alcohol or eat chocolate  Anyone else
    • Jmartes71
      This is my current exhausting battle with the medical field. As Ive mentioned in past I was diagnosed in 1994 by colonoscopy and endoscopy and was told i was celiac and to stay away from wheat and Ill be just fine.NOPE not at all in fact im worse thanks to being disregarded and my new word that was given that fits perfectly medically gaslight for over 30 years.I was not informed by anyone about the condition other than its a food allergy. Long story short if it wasn't for this website.I would be so much worse. I have been glutenfree since 1994 and was diagnosed with many other foods in 2007. I have stayed away from those items, except dairy sometimes I'll cheat when I know I'll be home a few days.My work history is horrible thanks to my digestive issues. I had my past primary for 25 years and everything im going through, he danced around celiac disease. My last day of employment was March 08, 2023 I was a bus driver and took pride in that.I get sick easily and when covid hit me and I stopped taking tramadel to push to give my bloated body a break, I haven't " bounced " back.Though not that well before but worse now.I applied for disability because yet again I was fired solely on health, which by the way seems to be legal because no lawyer wants to help.I was denied and my primary stated let me fluff it up a bit.FLUFF IT UP A BIT?He has been my doctor for 25 years! All that Im going through was basically ignored and not put together. I switched primary doctor and seeing new gi and its EXTREMELY EXHAUSTING because they are staying all my test came back clean, good, its normal. Except THANKYOU LORD JESUS HLA DQ2 is positive that Itty bitty tiny little test of positive FINALLY VALIDATION RIGHT.No, Im still struggling and fighting its not fair
    • Joel K
      Since medical insurance is not affected directly by celiac disease on an ongoing basis (i.e. medication, medical devices, daily monitoring, home care nursing, etc), I rather doubt anyone would be denied a policy for having it as a pre-existing condition. I’ve certainly never been and I have two pre-existing conditions that are managed with diet alone and both are long-well-known by my doctors and via medical testing and procedures. Insurance is all about risk management, not health. 
    • Joel K
    • miguel54b
      I got beaten so bad playing dominoes that made me realize that I was probably eating something with gluten, the culprit (Simms premium cracked pepper STEAKSTRIP). Now I can look back and see all other symptoms: irregular stools, bad sleep, desire to eat uncontrollably, bad mood, etc. Gluten really does a job on my short-term memory.
×
×
  • Create New...